No abstract available
MeSH terms
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Adult
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Biopsy
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DNA Mutational Analysis
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Female
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Fluorescent Antibody Technique
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Genetic Predisposition to Disease
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Glucosylceramides / metabolism
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Homozygote
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Humans
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Ichthyosiform Erythroderma, Congenital / diagnosis
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Ichthyosiform Erythroderma, Congenital / drug therapy
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Ichthyosiform Erythroderma, Congenital / genetics*
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Ichthyosiform Erythroderma, Congenital / metabolism
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Japan
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Lipid Droplets / metabolism
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Mutation*
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Phenotype
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Receptors, Cell Surface / genetics*
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Skin / metabolism
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Skin / ultrastructure
Substances
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Glucosylceramides
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NIPAL4 protein, human
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Receptors, Cell Surface